Ciliopathy: Alström Syndrome.

Alström syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance with hyperinsulinemia, dilated cardiomyopathy, and progressive hepatic and renal failure. Patients present in childhood with photophobia and nystagmus, and mimic Leber congenital amaurosis (LCA). The fundus shows pigmentary retinopathy with peau d'orange appearance and some fine white dots like drusen around the macula; the disc is pale, with attenuated retinal vessels (Fig. 35.1). Patients have short stature; boys have hypogonadotropic hypogonadism and girls have polycystic ovary syndrome (PCOS). Obesity is always present, with markedly increased triglyceride and VLDL-C levels; arterial hypertension is diagnosed as early as 2 years of age. There is no polydactyly or syndactyly. About half have developmental delay, but intelligence is usually normal.